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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1600&ordering=-synonyms",
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"results": [
{
"identifier": "Cardiomyopathy, dilated, 1OO.",
"acronym": "CMD1OO.",
"accession": "DI-06603",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Fanconi anemia complementation group F.",
"acronym": "FANCF.",
"accession": "DI-03058",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Cyanosis transient neonatal.",
"acronym": "TNCY.",
"accession": "DI-03171",
"synonyms": null,
"cross_references": "MeSH; D003490.",
"definition": "A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1P.",
"acronym": "CMD1P.",
"accession": "DI-00222",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1PP.",
"acronym": "CMD1PP.",
"accession": "DI-06707",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1PP inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Deafness, autosomal dominant, 4B.",
"acronym": "DFNA4B.",
"accession": "DI-03419",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2B.",
"acronym": "CMD2B.",
"accession": "DI-03469",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Heterotaxy, visceral, 8, autosomal.",
"acronym": "HTX8.",
"accession": "DI-04866",
"synonyms": null,
"cross_references": "MeSH; D059446.",
"definition": "A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2C.",
"acronym": "CMD2C.",
"accession": "DI-05389",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Huntington disease.",
"acronym": "HD.",
"accession": "DI-01754",
"synonyms": null,
"cross_references": "MeSH; D006816.",
"definition": "A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2D.",
"acronym": "CMD2D.",
"accession": "DI-06135",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Alternating hemiplegia of childhood 2.",
"acronym": "AHC2.",
"accession": "DI-03527",
"synonyms": null,
"cross_references": "MeSH; D006429.",
"definition": "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2E.",
"acronym": "CMD2E.",
"accession": "DI-06212",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2E is an autosomal recessive form with neonatal or early childhood onset and rapid progression to cardiac failure. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Faundes-Banka syndrome.",
"acronym": "FABAS.",
"accession": "DI-06142",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphic features. ",
"keywords": null
},
{
"identifier": "D-2-hydroxyglutaric aciduria 2.",
"acronym": "D2HGA2.",
"accession": "DI-02980",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. ",
"keywords": null
},
{
"identifier": "D-bifunctional protein deficiency.",
"acronym": "DBPD.",
"accession": "DI-01471",
"synonyms": null,
"cross_references": "MedGen; C0342870.",
"definition": "Disorder of peroxisomal fatty acid beta-oxidation. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2G.",
"acronym": "CMD2G.",
"accession": "DI-06435",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "D-lactic aciduria with gout.",
"acronym": "DLACD.",
"accession": "DI-05545",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2H.",
"acronym": "CMD2H.",
"accession": "DI-06595",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Kahrizi syndrome.",
"acronym": "KHRZ.",
"accession": "DI-03364",
"synonyms": null,
"cross_references": "MeSH; D019066.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, cataracts, coloboma, kyphosis, and coarse facial features. ",
"keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; "
}
]
}